Varaico: Literature-Extracted Genetic Variants

SPAG9

150 papers

RefSeq Summary

This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Ju...

Pfam Domains

RH1aa 23–87UCSCRILP homology 1 domain

JIP_LZIIaa 404–474UCSCJNK-interacting protein leucine zipper II

WD40_2aa 946–1183UCSCWD40 repeated domain

Gene Aliases

HGNC Name

sperm associated antigen 9

HGNC Alias Symbols

HSS; SYD1; KIAA0516; MGC14967; MGC74461; MGC117291; JLP; PHET; HLC4; FLJ13450; FLJ14006; FLJ26141; FLJ34602; CT89; JIP4; JIP-4; PIG6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001130528.3

p.E747_E753delins

c.2239_2258delinsCA

Surrounding Variants

1 paper

NM_001130528.3

p.K746_E752del0

c.2237_2254del18

1 paper

NM_001130528.3

p.Q745_E752delins

c.2235_2254delinsAAAGCCAACAA

1 paper

NM_001130528.3

p.K746_Q751delins

c.2237_2253delinsTTCCT

1 paper

NM_001130528.3

p.Q745_N750del0

c.2235_2249del15

1 paper

NM_001130528.3

p.Q745_N750delins

c.2235_2248delinsAATTC

1 paper

NM_001130528.3

p.Q744_N750delins

c.2232_2248delinsAAAATTCC

1 paper

NM_001130528.3

p.K746_L748del0

c.2236_2244del9

1 paper

NM_001130528.3

p.H765N

c.2293C>A

1 paper

NM_001130528.3

p.T768_K769delins

c.2303_2305delinsTCT

1 paper

NM_001130528.3

p.K769_V770ins3

c.2307_2308ins9

1 paper

NM_001130528.3

p.T768_L771ins1

c.2303_2311dup9

1 paper

NM_001130528.3

p.L771_I773ins1

c.2311_2319dup9